MCID: PYR011
MIFTS: 39

Pyropoikilocytosis malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Pyropoikilocytosis

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Aliases & Descriptions for Pyropoikilocytosis:

Name: Pyropoikilocytosis 49 11
Hereditary Pyropoikilocytosis 45 22 65 67
Pyropoikilocytosis, Hereditary 47 24
 
Hpp 22 67
Pyropoikilocytosis Hereditary 45


Classifications:



External Ids:

OMIM49 266140
MedGen34 C0520739

Summaries for Pyropoikilocytosis

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OMIM:49 Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia... (266140) more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to metal metabolism disorder and bone structure disease, and has symptoms including autosomal recessive inheritance, hemolytic anemia and elliptocytosis. An important gene associated with Pyropoikilocytosis is SPTA1 (Spectrin, Alpha, Erythrocytic 1), and among its related pathways are Interaction between L1 and Ankyrins and L1CAM interactions. Affiliated tissues include testes, and related mouse phenotypes are renal/urinary system and liver/biliary system.

UniProtKB/Swiss-Prot:67 Hereditary pyropoikilocytosis: Autosomal recessive hematologic disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

Related Diseases for Pyropoikilocytosis

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Graphical network of the top 20 diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms for Pyropoikilocytosis

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Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

HPO human phenotypes related to Pyropoikilocytosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hemolytic anemia HP:0001878
3 elliptocytosis HP:0004445
4 microspherocytosis HP:0004835
5 pyropoikilocytosis HP:0004839

Drugs & Therapeutics for Pyropoikilocytosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Novel Mutation of the Spectrin GeneCompletedNCT00723567

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

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Genetic tests related to Pyropoikilocytosis:

id Genetic test Affiliating Genes
1 Hereditary Pyropoikilocytosis22 24 SPTA1

Anatomical Context for Pyropoikilocytosis

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MalaCards organs/tissues related to Pyropoikilocytosis:

33
Testes

Animal Models for Pyropoikilocytosis or affiliated genes

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MGI Mouse Phenotypes related to Pyropoikilocytosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5EPB41, SPTA1, SPTB
2MP:00053708.2EPB41, SPTA1, SPTB

Publications for Pyropoikilocytosis

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Articles related to Pyropoikilocytosis:

(show all 39)
idTitleAuthorsYear
1
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. (26377499)
2015
2
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
3
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
4
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
5
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
6
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
7
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
8
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
9
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
10
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
11
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
12
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
13
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
14
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
15
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
16
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
17
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
18
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
19
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
20
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
21
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
22
Malaria, hereditary elliptocytosis, and pyropoikilocytosis. (2564967)
1989
23
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
24
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
25
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
26
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
27
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
28
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
29
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
30
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
31
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
32
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
33
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
34
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
35
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
36
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
37
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
38
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
39
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Variations for Pyropoikilocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

67
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPTBNM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)single nucleotide variantPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg)single nucleotide variantPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1SPTA1, EX5DEL, SVA RETROTRANSPOSON INSindelPathogenic
9SPTA1SPTA1, IVS19, T-G, -13single nucleotide variantPathogenic
10SPTA1SPTA1, IVS22DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Pyropoikilocytosis

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Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

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Pathways related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SPTA1, SPTB
2
Show member pathways
9.0SPTA1, SPTB
3
Show member pathways
8.5EPB41, SPTA1, SPTB

GO Terms for genes affiliated with Pyropoikilocytosis

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Cellular components related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of the cytoplasmic side of the plasma membraneGO:00312359.5SPTA1, SPTB
2actin cytoskeletonGO:00156299.0SPTA1, SPTB
3spectrin-associated cytoskeletonGO:00147319.0EPB41, SPTA1, SPTB
4spectrinGO:00080918.9EPB41, SPTA1, SPTB
5cortical cytoskeletonGO:00308638.8EPB41, SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:00320929.8EPB41, SPTA1
2actin filament cappingGO:00516939.6SPTA1, SPTB
3actin cytoskeleton organizationGO:00300369.6EPB41, SPTA1
4plasma membrane organizationGO:00070099.6SPTA1, SPTB
5porphyrin-containing compound biosynthetic processGO:00067799.5SPTA1, SPTB
6hemopoiesisGO:00300979.4SPTA1, SPTB
7MAPK cascadeGO:00001659.3SPTA1, SPTB
8activation of MAPKK activityGO:00001869.3SPTA1, SPTB
9Ras protein signal transductionGO:00072659.2SPTA1, SPTB
10insulin receptor signaling pathwayGO:00082869.2SPTA1, SPTB
11fibroblast growth factor receptor signaling pathwayGO:00085439.1SPTA1, SPTB
12Fc-epsilon receptor signaling pathwayGO:00380959.1SPTA1, SPTB
13vascular endothelial growth factor receptor signaling pathwayGO:00480109.0SPTA1, SPTB
14neurotrophin TRK receptor signaling pathwayGO:00480118.9SPTA1, SPTB
15epidermal growth factor receptor signaling pathwayGO:00071738.7SPTA1, SPTB

Molecular functions related to Pyropoikilocytosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin filament bindingGO:00510159.3SPTA1, SPTB
2actin bindingGO:00037798.8EPB41, SPTB
3structural constituent of cytoskeletonGO:00052008.5EPB41, SPTA1, SPTB

Sources for Pyropoikilocytosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet